检索结果 - Gallagher, Renata

A Promoter Region Mutation Affecting Replication of the Tetrahymena Ribosomal DNA Minichromosome 由 Gallagher, Renata C., Blackburn, Elizabeth H.

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A case of severe acidosis in a 12-month-old: Succinyl-CoA:3-ketoacid-CoA transferase deficiency with OXCT1 gene mutations 由 Dhammi, Navjot, Essakow, Jenna, Gallagher, Renata, Gaw, Cynthia

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Evidence for the Role of PWCR1/HBII-85 C/D Box Small Nucleolar RNAs in Prader-Willi Syndrome 由 Gallagher, Renata C., Pils, Birgit, Albalwi, Mohammed, Francke, Uta

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The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health 由 Woerner, Audrey C., Gallagher, Renata C., Vockley, Jerry, Adhikari, Aashish N.

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Hepatocellular carcinoma in a gene therapy research subject with ornithine transcarbamylase deficiency 由 Wilson, James M., Shchelochkov, Oleg A., Gallagher, Renata C., Batshaw, Mark L.

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Significant Hepatic Involvement in patients with Ornithine Transcarbamylase Deficiency 由 Gallagher, Renata C., Lam, Christina, Wong, Derek, Cederbaum, Stephen, Sokol, Ronald J.

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Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy 由 Stabler, Sally P., Freehauf, Cynthia, Allen, Robert H., Thomas, Janet, Gallagher, Renata

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The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1 由 Scharer, Gunter, Brocker, Chad, Vasiliou, Vasilis, Creadon-Swindell, Geralyn, Gallagher, Renata C., Spector, Elaine, Van Hove, Johan L. K.

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Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD) 由 Laemmle, Alexander, Gallagher, Renata C., Keogh, Adrian, Stricker, Tamar, Gautschi, Matthias, Nuoffer, Jean-Marc, Baumgartner, Matthias R., Häberle, Johannes

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Cobalamin D Deficiency Identified Through Newborn Screening 由 Abu-El-Haija, Aya, Mendelsohn, Bryce A., Duncan, Jacque L., Moore, Anthony T., Glenn, Orit A., Weisiger, Kara, Gallagher, Renata C.

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Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients 由 Schwab, Marisa E., Brown, Julia E. H., Lianoglou, Billie, Jin, Chengshi, Conroy, Patricia C., Gallagher, Renata C., Harmatz, Paul, MacKenzie, Tippi C.

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Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace... 由 Adhikari, Aashish N., Currier, Robert J., Tang, Hao, Turgeon, Coleman T., Nussbaum, Robert L., Srinivasan, Rajgopal, Sunderam, Uma, Kwok, Pui-Yan, Brenner, Steven E., Gavrilov, Dimitar, Puck, Jennifer M., Gallagher, Renata

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Positive Newborn Screen for Methylmalonic Aciduria Identifies the First Mutation in TCblR/CD320, the Gene for Cellular Uptake of Transcobalamin-bound Vitamin B(12) 由 Quadros, Edward V., Lai, Shao-Chiang, Nakayama, Yasumi, Sequeira, Jeffrey M., Hannibal, Luciana, Wang, Sihe, Jacobsen, Donald W., Fedosov, Sergey, Wright, Erica, Gallagher, Renata C., Anastasio, Natascia, Watkins, David, Rosenblatt, David S.

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Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy 由 Van Hove, Johan L.K., Saenz, Margarita S., Thomas, Janet A., Gallagher, Renata, Lovell, Mark A., Fenton, Laura Z., Shanske, Sarah, Myers, Sommer M., Wanders, Ronald J. A., Ruiter, Jos, Turkenburg, Marjolein, Waterham, Hans R.

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Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing 由 Chatfield, Kathryn C., Coughlin, Curtis R., Friederich, Marisa W., Gallagher, Renata C., Hesselberth, Jay R., Lovell, Mark A., Ofman, Rob, Swanson, Michael A., Thomas, Janet A., Wanders, Ronald J.A., Wartchow, Eric P., Van Hove, Johan L.K.

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Opportunities and challenges for the computational interpretation of rare variation in clinically important genes 由 McInnes, Gregory, Sharo, Andrew G., Koleske, Megan L., Brown, Julia E.H., Norstad, Matthew, Adhikari, Aashish N., Wang, Sheng, Brenner, Steven E., Halpern, Jodi, Koenig, Barbara A., Magnus, David C., Gallagher, Renata C., Giacomini, Kathleen M., Altman, Russ B.

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Clinical and biochemical characterization of four patients with mutations in ECHS1 由 Ferdinandusse, Sacha, Friederich, Marisa W., Burlina, Alberto, Ruiter, Jos P. N., Coughlin, Curtis R., Dishop, Megan K., Gallagher, Renata C., Bedoyan, Jirair K., Vaz, Frédéric M., Waterham, Hans R., Gowan, Katherine, Chatfield, Kathryn, Bloom, Kaitlyn, Bennett, Michael J., Elpeleg, Orly, Van Hove, Johan L. K., Wanders, Ronald J. A.

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Application of full-genome analysis to diagnose rare monogenic disorders 由 Shieh, Joseph T., Penon-Portmann, Monica, Wong, Karen H. Y., Levy-Sakin, Michal, Verghese, Michelle, Slavotinek, Anne, Gallagher, Renata C., Mendelsohn, Bryce A., Tenney, Jessica, Beleford, Daniah, Perry, Hazel, Chow, Stephen K., Sharo, Andrew G., Brenner, Steven E., Qi, Zhongxia, Yu, Jingwei, Klein, Ophir D., Martin, David, Kwok, Pui-Yan, Boffelli, Dario

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Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders 由 Shieh, Joseph T., Penon-Portmann, Monica, Wong, Karen H. Y., Levy-Sakin, Michal, Verghese, Michelle, Slavotinek, Anne, Gallagher, Renata C., Mendelsohn, Bryce A., Tenney, Jessica, Beleford, Daniah, Perry, Hazel, Chow, Stephen K., Sharo, Andrew G., Brenner, Steven E., Qi, Zhongxia, Yu, Jingwei, Klein, Ophir D., Martin, David, Kwok, Pui-Yan, Boffelli, Dario

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Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Conso... 由 Ah Mew, Nicholas, Cnaan, Avital, McCarter, Robert, Choi, Henry, Glass, Penny, Rice, Katie, Scavo, Louis, Gillespie, Catherine W., Diaz, George A., Berry, Gerard T., Wong, Derek, Konczal, Laura, McCandless, Shawn E., Coughlin II, Curtis R., Weisfeld-Adams, James D., Ficicioglu, Can, Yudkoff, Mark, Enns, Gregory M., Lichter-Konecki, Uta, Gallagher, Renata, Tuchman, Mendel

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